National Human Genome Research Institute

National Institutes of Health U.S. Department of Health and Human Services

A Decade of Genomics

NHGRI Celebrates 10th Anniversary

In January 2007, the National Human Genome Research Institute (NHGRI) celebrated its 10th anniversary as an institute of the National Institutes of Health (NIH), marking a decade that saw genomics emerge as a powerful research tool and looking ahead to an era in which genomics will transform medical care.

On January 14th, 1997, then Health and Human Services Secretary Donna E. Shalala created NHGRI when she signed the documents needed to elevate the National Center for Human Genome Research to the status of a full-fledged institute. Renamed the National Human Genome Research Institute, NHGRI became the 19th institute at NIH. Since then, the NIH has created the National Institute of Biomedical Imaging and Bioengineering as its 20th institute in 2000 and the National Center for Complementary and Alternative Medicine in 1999.

"Back then, people were skeptical about the impact of genomics. But today it would be tough to find a biomedical researcher who isn't using the tools developed over the past 10 years in their daily research," said NHGRI Director Francis S. Collins, M.D., Ph.D. "Genome research has moved from a small child with an unpredictable future to an impressive adult who is a major participant in biomedical research."

NHGRI's predecessor, the National Center for Human Genome Research (NCHGR), was established in 1989 for the purpose of leading NIH's component of the Human Genome Project - the international, public effort to sequence all 3 billion DNA base pairs of the human genetic blueprint. James D. Watson, Ph.D., coauthor with the late Francis Crick, Ph.D., of what is arguably the most famous paper in biology: the one-page description of the DNA double helix in Nature, and chancellor of the Cold Spring Harbor Laboratory in Cold Spring Harbor, New York, was the first director of the center and played a leading role in launching the Human Genome Project.

Developing Technologies and Techniques

During its first seven years, NCHGR devoted much of its energy to developing the technologies and techniques needed to map and ultimately sequence the human genome. "We had a competent and experienced senior management staff, a very active intramural program and a heroic extramural program that together were conducting and overseeing some of the most complex science at NIH," said Dr. Collins, who was lured away from a comfortable life at the University of Michigan, Ann Arbor, to become the center's director in 1993.

In fact, many staffers from those early years are still shaping the field of genomics at NHGRI. They include: Director of the Division of Extramural Research (DER) Mark Guyer, Ph.D.; Scientific Director of the Division of Intramural Research Eric Green, M.D., Ph.D.; Associate Director of DER Jane Peterson, Ph.D.; and Associate Director of DER Bettie Graham, Ph.D.

Foreseeing that the data generated by the Human Genome Project would have a revolutionary and long-lasting impact on biomedical research, then NIH Director Harold Varmus urged HHS Secretary Shalala to confer institute status upon the center in 1996. "Logically, they knew genomics was not going to be one of those flash-in-the-pan sciences," said Dr. Collins.

At the time, NCHGR was just ramping up the sequencing of the human genome, having developed and optimized procedures and pipelines on simpler model organisms, such as a brewer's yeast and a roundworm. It was also working hard to further refine sequencing technologies and methods to achieve reliable, cost-effective performance in a high-throughput setting.

"The atmosphere was one of excitement as we moved into the flagship of the Human Genome Project, but there was considerable anxiety about whether we could do it with the budget that was available," recalled Dr. Collins.

As the century turned and the publicly funded Human Genome Project transitioned to factory-scale sequencing, unexpected competition arose in the form of a private company, Celera Genomics, Inc., of Rockville, Md. Celera sought to sequence the human genome first and sell the results to researchers. A race ensued, with joint winners declared at the White House in June 2000.

But more importantly, because the public Human Genome Project placed all the resulting data in freely available, public databases, the sequence of the human genome became available for anyone to use anywhere in the world to conduct medical research and advance the cause of human health.

Fortunately, the cost of sequencing continued to decrease, from about 90 cents per base pair in 1996 to five cents per base pair by April 2003, when all the goals of the Human Genome Project were completed more than two years ahead of schedule and under budget.

Circa 1997

Circa 2007

Researchers believe there are between 80,000-100,000 genes in the human genome.

Based on analysis of the sequenced human genome, estimate of genes is reduced to 20,000-25,000.

600-700 genes associated with human disease had been discovered.

1,972 genes associated with human disease have been discovered.

1,972 genes associated with human disease have been discovered.

Dozens of organisms' genomes have been sequenced to varying degrees including the genomes of the human, mouse, rat, chimpanzee, cow, dog, fruit fly and honeybee.

New Projects, New Future

Building upon the foundation laid by the sequencing of the human genome, NHGRI now has embarked on a new set of projects aimed at creating genomic tools needed to expand the understanding of human biology and improve public health.

Those efforts include the International HapMap Project, a map of genetic variation that provides a short cut for researchers attempting to identify genes associated with human diseases; The Cancer Genome Atlas, a comprehensive effort to accelerate our understanding of the molecular basis of cancer through the application of genome analysis technologies; and a sequencing technology development program, which is aimed at lowering the cost of sequencing a human-sized genome to $1,000 or less.

Looking ahead at the next decade, Dr. Collins hopes to see genomics move into the clinic and revolutionize strategies for diagnosing, treating and, ultimately, preventing many common diseases, such as Alzheimer's disease, asthma, cancer, diabetes, heart disease, obesity and mental illnesses.

"That's a very ambitious dream," said Dr. Collins, "but we are beginning to see the leading edge of this revolution, which is quite gratifying. If we keep our energy and commitment up in this institute, I'm quite confident that in the next 10 years, we will overturn everything we thought we knew and be given an opportunity to do a much better job of keeping people healthy."